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Gene : ABL1 Homo sapiens

Name  ? ABL proto-oncogene 1, non-receptor tyrosine kinase Cytological Location  9q34.12
Brief Description  ABL proto-oncogene 1, non-receptor tyrosine kinase
description  This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]
  • synonyms:
  • v-abl Abelson murine leukemia viral oncogene homolog 1,
  • bcr/abl,
  • c-ABL,
  • v-abl,
  • c-abl oncogene 1, non-receptor tyrosine kinase,
  • JTK7,
  • c-ABL1,
  • ABL,
  • HGNC:76,
  • JTK7,
  • NM_007313,
  • CHDSKM,
  • ABL,
  • ABL1,
  • c-abl oncogene 1, receptor tyrosine kinase,
  • OTTHUMG00000020813,
  • uc004bzv.4,
  • M14752,
  • p150,
  • c-ABL,
  • p150
  • identifiers:
  • 25,
  • ENSG00000097007,
  • ABL1

Genome feature

Region: gene ? Length: 173795  
Location: 9:130713881-130887675 Cyto location: 9q34.12


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

19 SN Ps

5 Cross References

20 Data Sets

35 Homologues

0 Located Features

90 Rna Seq Results